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Results: 1-25 | 26-31
Results: 1-25/31
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
Authors: Pras, E Pras, E Bakhan, T Levy-Nissenbaum, E Lahat, H Assia, EI Garzozi, HJ Kastner, DL Goldman, B Frydman, M
Citation: E. Pras et al., A gene causing autosomal recessive cataract maps to the short arm of chromosome 3, ISR MED ASS, 3(8), 2001, pp. 559-562
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD)
Authors: Livneh, A Aksentijevich, I Langevitz, P Torosyna, Y G-Shoham, N Shinar, Y Pras, E Zaks, N Padeh, S Kastner, DL Pras, M
Citation: A. Livneh et al., A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD), EUR J HUM G, 9(3), 2001, pp. 191-196
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
Authors: Font, M Feliubadalo, L Estivill, X Nunes, V Golomb, E Kreiss, Y Pras, E Bisceglia, L d'Adamo, AP Zelante, L Gasparini, P Bassi, MT George, AL Manzoni, M Riboni, M Ballabio, A Borsani, G Reig, N Fernandez, E Zorzano, A Bertran, J Palacin, M
Citation: M. Font et al., Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria, HUM MOL GEN, 10(4), 2001, pp. 305-316
Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients
Authors: Ben-Zeev, B Gross, V Kushnir, T Shalev, R Hoffman, C Shinar, Y Pras, E Brand, N
Citation: B. Ben-zeev et al., Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients, J CHILD NEU, 16(2), 2001, pp. 93-99
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer
Authors: Berends, MJW Hollema, H Wu, Y van der Sluis, T Mensink, RGJ ten Hoor, KA Sijmons, RH de Vries, EGE Pras, E Mourits, MJE Hofstra, RMW Buys, CHCM Kleibeuker, JH van der Zee, AGJ
Citation: Mjw. Berends et al., MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer, INT J CANC, 92(3), 2001, pp. 398-403
Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews
Authors: Pras, E Aksentijevich, I Shinar, Y Kastner, DL Achiron, A
Citation: E. Pras et al., Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews, EUR NEUROL, 46(3), 2001, pp. 153-155
Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia - Clinical features and assignment of the disease gene to chromosome 1p13-21
Authors: Lahat, H Eldar, M Levy-Nissenbaum, E Bahan, T Friedman, E Khoury, A Lorber, A Kastner, DL Goldman, B Pras, E
Citation: H. Lahat et al., Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia - Clinical features and assignment of the disease gene to chromosome 1p13-21, CIRCULATION, 103(23), 2001, pp. 2822-2827
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
Authors: Lahat, H Pras, E Olender, T Avidan, N Ben-Asher, E Man, O Levy-Nissenbaum, E Khoury, A Lorber, A Goldman, B Lancet, D Eldar, M
Citation: H. Lahat et al., A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel, AM J HU GEN, 69(6), 2001, pp. 1378-1384
Vacuoliting megalencephalic leukoencephalopathy
Authors: Pras, E
Citation: E. Pras, Vacuoliting megalencephalic leukoencephalopathy, AM J HU GEN, 68(2), 2001, pp. 546-547
Cystinuria at the turn of the millennium: Clinical aspects and new molecular developments
Authors: Pras, E
Citation: E. Pras, Cystinuria at the turn of the millennium: Clinical aspects and new molecular developments, MOL UROL, 4(4), 2000, pp. 409-413
The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer
Authors: Kreiss, Y Barak, F Baruch, RG Levy-Lahad, E Pras, E Friedman, E
Citation: Y. Kreiss et al., The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer, GENET TEST, 4(4), 2000, pp. 403-407
Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
Authors: Shinar, Y Livneh, A Langevitz, P Zaks, N Aksentijevich, I Koziol, DE Kastner, DL Pras, M Pras, E
Citation: Y. Shinar et al., Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever, J RHEUMATOL, 27(7), 2000, pp. 1703-1707
Protracted febrile myalgia of familial Mediterranean fever - Mutation analysis and clinical correlations
Authors: Sidi, G Shinar, Y Livneh, A Langevitz, P Pras, M Pras, E
Citation: G. Sidi et al., Protracted febrile myalgia of familial Mediterranean fever - Mutation analysis and clinical correlations, SC J RHEUM, 29(3), 2000, pp. 174-176
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
Authors: Pras, E Frydman, M Levy-Nissenbaum, E Bakhan, T Raz, J Assia, EI Goldman, B Pras, E
Citation: E. Pras et al., A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family, INV OPHTH V, 41(11), 2000, pp. 3511-3515
Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes - Reply
Authors: Padeh, S Brezniak, N Zemer, D Pras, E Livneh, A Langevitz, P Migdal, A Pras, M Passwell, JH
Citation: S. Padeh et al., Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes - Reply, J PEDIAT, 137(3), 2000, pp. 439-440
Familial Mediterranean fever: New aspects and prospects at the end of the millenium
Authors: Langevitz, P Livneh, A Padeh, S Zaks, N Shinar, Y Zemer, D Pras, E Pras, M
Citation: P. Langevitz et al., Familial Mediterranean fever: New aspects and prospects at the end of the millenium, ISR MED ASS, 1(1), 1999, pp. 31-36
MEFV mutation analysis in Turkish familial Mediterranean fever patients with amyloidosis - Response
Authors: Pras, E Pras, M
Citation: E. Pras et M. Pras, MEFV mutation analysis in Turkish familial Mediterranean fever patients with amyloidosis - Response, AMYLOID, 6(4), 1999, pp. 302-302
MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
Authors: Livneh, A Langevitz, P Shinar, Y Zaks, N Kastner, DL Pras, M Pras, E
Citation: A. Livneh et al., MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever, AMYLOID, 6(1), 1999, pp. 1-6
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57
Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients
Authors: Pras, E Pras, E Kreiss, Y Frishberg, Y Prosen, L Aksentijevich, I Kastner, DL
Citation: E. Pras et al., Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients, GENOMICS, 60(2), 1999, pp. 248-250
Topical anesthesia using lidocaine gel for cataract surgery
Authors: Assia, EI Pras, E Yehezkel, M Rotenstreich, Y Jager-Roshu, S
Citation: Ei. Assia et al., Topical anesthesia using lidocaine gel for cataract surgery, J CAT REF S, 25(5), 1999, pp. 635-639
The importance of family history in young patients with endometrial cancer
Authors: Berends, MJW Kleibeuker, JH de Vries, EGE Mourits, MJE Hollema, H Pras, E van der Zee, AGJ
Citation: Mjw. Berends et al., The importance of family history in young patients with endometrial cancer, EUR J OB GY, 82(2), 1999, pp. 139-141
Long-term results of preoperative intra-arterial doxorubicin combined withneoadjuvant radiotherapy, followed by extensive surgical resection for locally advanced soft tissue sarcomas of the extremities
Authors: Nijhuis, PHA Pras, E Sleijfer, DT Molenaar, WM Koops, HS Hoekstra, HJ
Citation: Pha. Nijhuis et al., Long-term results of preoperative intra-arterial doxorubicin combined withneoadjuvant radiotherapy, followed by extensive surgical resection for locally advanced soft tissue sarcomas of the extremities, RADIOTH ONC, 51(1), 1999, pp. 15-19
Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics
Authors: Tamir, N Langevitz, P Zemer, D Pras, E Shinar, Y Padeh, S Zaks, N Pras, M Livneh, A
Citation: N. Tamir et al., Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics, AM J MED G, 87(1), 1999, pp. 30-35
Subacute thyroiditis in a patient with MS treated with interferon beta-1a
Authors: Kreiss, Y Cohen, O Pras, E Achiron, A
Citation: Y. Kreiss et al., Subacute thyroiditis in a patient with MS treated with interferon beta-1a, NEUROLOGY, 53(7), 1999, pp. 1606-1606
Risultati: 1-25 | 26-31